Kidneys of adult Fah(-/-) mice, withdrawn from NTBC for 15 days, reveal limited characteristics of apoptosis, and have acquired resistance to a caspase-9 (show CASP9 ELISA Kits)- and caspase-3 (show CASP3 ELISA Kits)-independent form of cell death

Four splicing mutations affecting exonic or intronic nucleotides of the FAH (show FANCA ELISA Kits) gene were identified in two hereditary tyrosinemia type I patients.

Two siblings have been described with tyrosinemia type 1 complicated by reversible hypertrophic cardiomyopathy in infancy due to a FAH (show FANCA ELISA Kits) homozygous mutation.

Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient.

Identification of novel mutations in the fumarylacetoacetase gene in Hereditary tyrosinaemia type I.

We detected 11 novel and 6 previously described pathogenic mutations in the fumarylacetoacetase gene in a cohort of 43 patients originating from the Middle East with the acute form hereditary tyrosinemia type I

A missense mutation in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

identification of an alternative nonsense transcript of the fah (show FANCA ELISA Kits) gene, which despite being subjected to nonsense-mediated mRNA decay, produces a protein in different human tissues

An immunopositive liver nodule was found in a patient with tyrosinemia having a mosaic pattern of FAH (show FANCA ELISA Kits).

FAH Antigen Profile

Antigen Summary

This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT).